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1.
Cereb Cortex ; 34(6)2024 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-38879758

RESUMO

Placental-related fetal growth restriction, resulting from placental dysfunction, impacts 3-5% of pregnancies and is linked to elevated risk of adverse neurodevelopmental outcomes. In response, the fetus employs a mechanism known as brain-sparing, redirecting blood flow to the cerebral circuit, for adequate supply to the brain. In this study we aimed to quantitatively evaluate disparities in gyrification and brain volumes among fetal growth restriction, small for gestational age and appropriate-for gestational-age fetuses. Additionally, we compared fetal growth restriction fetuses with and without brain-sparing. The study encompassed 106 fetuses: 35 fetal growth restriction (14 with and 21 without brain-sparing), 8 small for gestational age, and 63 appropriate for gestational age. Gyrification, supratentorial, and infratentorial brain volumes were automatically computed from T2-weighted magnetic resonance images, following semi-automatic brain segmentation. Fetal growth restriction fetuses exhibited significantly reduced gyrification and brain volumes compared to appropriate for gestational age (P < 0.001). Small for gestational age fetuses displayed significantly reduced gyrification (P = 0.038) and smaller supratentorial volume (P < 0.001) compared to appropriate for gestational age. Moreover, fetal growth restriction fetuses with BS demonstrated reduced gyrification compared to those without BS (P = 0.04), with no significant differences observed in brain volumes. These findings demonstrate that brain development is affected in fetuses with fetal growth restriction, more severely than in small for gestational age, and support the concept that vasodilatation of the fetal middle cerebral artery reflects more severe hypoxemia, affecting brain development.


Assuntos
Retardo do Crescimento Fetal , Imageamento por Ressonância Magnética , Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/patologia , Humanos , Feminino , Imageamento por Ressonância Magnética/métodos , Gravidez , Adulto , Idade Gestacional , Encéfalo/diagnóstico por imagem , Encéfalo/crescimento & desenvolvimento , Encéfalo/patologia , Masculino , Recém-Nascido Pequeno para a Idade Gestacional
2.
J Magn Reson Imaging ; 2024 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-38979886

RESUMO

BACKGROUND: Cytomegalovirus (CMV) is the most common intrauterine infection and may be associated with unfavorable outcomes. While some CMV-infected fetuses may show gross or subtle brain abnormalities on MRI, their clinical significance may be unclear. Conversely, normal development cannot be guaranteed in CMV-infected fetuses with normal MRI. PURPOSE: To assess brain metabolite differences in CMV-infected fetuses using magnetic resonance spectroscopy (MRS). STUDY TYPE: Retrospective. SUBJECTS: Out of a cohort of 149 cases, 44 with maternal CMV infection, amniocentesis results, and good-quality MRS were included. CMV-infected fetuses with positive polymerase chain reaction (PCR) (N = 35) were divided based on MRI results as follows: typical brain abnormalities (gross findings, N = 8), exclusive white matter hyperintense signal (WMHS) on T2-weighted images (subtle findings, N = 7), and normal MRI (N = 20). Uninfected fetuses (negative PCR) with normal MRI were included as controls (N = 9). FIELD STRENGTH: 3 T, T2-weighted half Fourier single-shot turbo spin-echo (HASTE), T2-weighted true fast imaging with steady-state free precession (TrueFISP), T1- and T2*-weighted fast low angle shot (FLASH), and 1H-MRS single-voxel point resolved spectroscopy (PRESS) sequences. ASSESSMENT: MRI findings were assessed by three radiologists, and metabolic ratios within the basal ganglia were calculated using LCModel. STATISTICAL TESTS: Analysis of covariance test with Bonferroni correction for multiple comparisons was used to compare metabolic ratios between groups while accounting for gestational age. A P-value <0.05 was deemed significant. RESULTS: MRS was successfully acquired in 63% of fetuses. Substantial agreement was observed between radiologists (Fleiss' kappa [k] = 0.8). Infected fetuses with gross MRI findings exhibited significantly reduced tNAA/tCr ratios (0.64 ± 0.08) compared with infected fetuses with subtle MRI findings (0.85 ± 0.19), infected fetuses with normal MRI (0.8 ± 0.14) and controls (0.81 ± 0.15). No other significant differences were detected (P ≥ 0.261). CONCLUSION: Reduced tNAA/tCr within the apparently normal brain tissue was detected in CMV-infected fetuses with gross brain abnormalities, suggesting extensive brain damage. In CMV-infected fetuses with isolated WMHS, no damage was detected by MRS. LEVEL OF EVIDENCE: 3 TECHNICAL EFFICACY: Stage 3.

3.
Prenat Diagn ; 44(3): 357-359, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38366977

RESUMO

A 36 years old woman in her first pregnancy was referred at 24w3d for a dedicated neurosonographic examination due to a suspected short corpus callosum (CC). The examination depicted a dysgenetic CC with asymmetric thickness at the level of the body in coronal views, very thin in the midline and thicker in both sides, suggesting bilateral formation of Probst bundles. The BPD, HC, and transverse cerebellar diameters were in the normal low range without associated growth restriction. Associated anomalies were not detected in the brain or other organs. Following genetic consultation and a normal CMA, trio exome sequencing was performed and a de novo missense pathogenic mutation c.2353 C > T in the DHX30 gene was detected. This variant has been previously reported in children and adults, mostly with a severe phenotype including neurodevelopmental disorder with variable motor and language impairment, but also mild phenotypes have been reported. MRI describes delayed myelination, ventriculomegaly, and cortical and cerebellar atrophy as imaging features in affected patients. This is the first prenatal report of a DHX30-associated neurodevelopmental disorder in which the fetus presents with isolated callosal dysgenesis, stressing the importance of exome sequencing in fetuses with this condition, as far as it is phenotypic presentation of numerous syndromes with different outcomes.


Assuntos
Corpo Caloso , Hidrocefalia , Adulto , Feminino , Humanos , Gravidez , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/genética , Encéfalo/anormalidades , Corpo Caloso/diagnóstico por imagem , Feto , Hidrocefalia/patologia , Imageamento por Ressonância Magnética/métodos , RNA Helicases
4.
J Magn Reson Imaging ; 2023 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-37982367

RESUMO

BACKGROUND: Small for gestational age (SGA) fetuses are at risk for perinatal adverse outcomes. Fetal body composition reflects the fetal nutrition status and hold promise as potential prognostic indicator. MRI quantification of fetal anthropometrics may enhance SGA risk stratification. HYPOTHESIS: Smaller, leaner fetuses are malnourished and will experience unfavorable outcomes. STUDY TYPE: Prospective. POPULATION: 40 SGA fetuses, 26 (61.9%) females: 10/40 (25%) had obstetric interventions due to non-reassuring fetal status (NRFS), and 17/40 (42.5%) experienced adverse neonatal events (CANO). Participants underwent MRI between gestational ages 30 + 2 and 37 + 2. FIELD STRENGTH/SEQUENCE: 3-T, True Fast Imaging with Steady State Free Precession (TruFISP) and T1 -weighted two-point Dixon (T1 W Dixon) sequences. ASSESSMENT: Total body volume (TBV), fat signal fraction (FSF), and the fat-to-body volumes ratio (FBVR) were extracted from TruFISP and T1 W Dixon images, and computed from automatic fetal body and subcutaneous fat segmentations by deep learning. Subjects were followed until hospital discharge, and obstetric interventions and neonatal adverse events were recorded. STATISTICAL TESTS: Univariate and multivariate logistic regressions for the association between TBV, FBVR, and FSF and interventions for NRFS and CANO. Fisher's exact test was used to measure the association between sonographic FGR criteria and perinatal outcomes. Sensitivity, specificity, positive and negative predictive values, and accuracy were calculated. A P-value <0.05 was considered statistically significant. RESULTS: FBVR (odds ratio [OR] 0.39, 95% confidence interval [CI] 0.2-0.76) and FSF (OR 0.95, CI 0.91-0.99) were linked with NRFS interventions. Furthermore, TBV (OR 0.69, CI 0.56-0.86) and FSF (OR 0.96, CI 0.93-0.99) were linked to CANO. The FBVR sensitivity/specificity for obstetric interventions was 85.7%/87.5%, and the TBV sensitivity/specificity for CANO was 82.35%/86.4%. The sonographic criteria sensitivity/specificity for obstetric interventions was 100%/33.3% and insignificant for CANO (P = 0.145). DATA CONCLUSION: Reduced TBV and FBVR may be associated with higher rates of obstetric interventions for NRFS and CANO. EVIDENCE LEVEL: 2 TECHNICAL EFFICACY: Stage 5.

5.
Prenat Diagn ; 43(12): 1520-1526, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37946665

RESUMO

OBJECTIVE: To study the early second trimester development of brain hemispheres, lateral ventricles, choroid plexus, and ganglionic eminence/basal ganglia complex (GEBG). METHODS: A retrospective analysis of TVUS 3D volumes of 14-18 gestational weeks (GW) fetuses. Hemispheres were analyzed for wall thickness, choroid plexus extension, GEBG height and length, lamination pattern (intermediate zone and the subplate border, IZ-SP), ventricle height, width, and angle. Measurements were correlated with GW and assessed for symmetry and impact of probe resolution. RESULTS: We included 84 fetuses (168 hemispheres). The CP location is variable at 14-16 GW, becoming consistently and symmetrically posterior at 18 GW. Hemispheric thickness, GEBG height and length grow significantly with fetal age, whereas ventricle height, width, and angle regress. The detection rate of the IZ-SP line at 14, 15, 16, 17, and 18 weeks was 0%, 24%, 78.26%, 100%, and 100%, respectively. The ratio between the upper and lower segments of the cerebral lamination grows with GW. For all brain structures, the asymmetry between sides was significant only for ventricular height. The transducer type did not have a significant effect on any outcome except for ventricle height. CONCLUSION: These normal features of the parasagittal view should aid clinicians in fetal brain assessment during the early weeks of the second trimester.


Assuntos
Encéfalo , Ventrículos Cerebrais , Humanos , Feminino , Gravidez , Estudos Retrospectivos , Ventrículos Cerebrais/diagnóstico por imagem , Idade Gestacional , Feto , Ultrassonografia Pré-Natal
6.
Prenat Diagn ; 43(10): 1374-1377, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37639281

RESUMO

A Jewish couple of mixed origin was referred for genetic counseling following termination of pregnancy at 18 weeks of gestation due to severe ventriculomegaly with aqueduct stenosis. Trio exome sequencing revealed a loss-of-function heterozygous variant in the SMARCC1 gene inherited from an unaffected mother. The SMARCC1 gene is associated with embryonic neurodevelopmental processes. Recent studies have linked perturbations of the gene with autosomal dominant congenital hydrocephalus, albeit with reduced penetrance. However, these studies were not referenced in the SMARCC1 OMIM record (*601732) and the gene was not considered, at the time, an OMIM morbid gene. Following our case and appeal, SMARCC1 is now considered a susceptibility gene for hydrocephalus. This allowed us to reclassify the variant as likely pathogenic and empowered the couple to make informed reproductive choices.


Assuntos
Hidrocefalia , Fatores de Transcrição , Feminino , Humanos , Gravidez , Aconselhamento Genético , Heterozigoto , Hidrocefalia/genética , Penetrância , Fatores de Transcrição/genética
7.
Fetal Diagn Ther ; 50(6): 430-437, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37517386

RESUMO

INTRODUCTION: The objective of this study was to investigate myocardial deformation of left (LV) and right ventricle (RV) using 2-dimensional speckle-tracking echocardiography (2D-STE) in fetuses with and without congenital cytomegalovirus (CMV) infection. METHODS: This was a prospective single-center study. Vertical transmission was defined by a positive CMV polymerase chain reaction (PCR) test on the amniotic fluid or on the neonate's urine. Fetuses were divided into group 1 and group 2 if CMV-PCR was positive or negative, respectively. LV and RV global longitudinal strain (GLS) values were obtained and adjusted for gestational age by calculating Z-scores. Univariate analysis was carried out to compare cardiac indices between group 1 and group 2. RESULTS: Fetuses from group 1 (n = 11) had a significantly lower LV myocardial shortening than those from group 2 (n = 32). GLS was -20.7 ± 5.2% and -26.3 ± 4.1%, respectively (p = 0.001). Similarly, GLS Z-score was lower (0.02 ± 0.72) in group 1 than in group 2 (-0.80 ± 0.59) (p = 0.001). Similarly, RV GLS Z-score was significantly impaired in group 1 compared to group 2 (-0.44 ± 1.03 vs. -1.04 ± 0.71, p = 0.041). CONCLUSION: Fetuses with congenital CMV showed subclinical biventricular myocardial dysfunction. Further studies are needed to confirm the potential role of 2D-STE in identifying fetuses with congenital CMV at risk of postnatal cardiovascular morbidities.


Assuntos
Infecções por Citomegalovirus , Ecocardiografia , Recém-Nascido , Humanos , Estudos Prospectivos , Ecocardiografia/métodos , Coração Fetal/diagnóstico por imagem , Infecções por Citomegalovirus/diagnóstico por imagem , Ventrículos do Coração/diagnóstico por imagem
8.
Prenat Diagn ; 42(13): 1674-1681, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36371614

RESUMO

Fetal cerebral ventriculomegaly is a relatively common finding, observed during approximately 1% of obstetric ultrasounds. In the second and third trimester, mild (≥10 mm) and severe ventriculomegaly (≥15 mm) are defined according to the measurement of distal lateral ventricles that is included in the routine sonographic examination of central nervous system. A detailed neurosonography and anatomy ultrasound should be performed to detect other associated anomalies in the central nervous system and in other systems, respectively. Fetal MRI might be useful when neurosonography is unavailable or suboptimal. The risk of chromosomal and non-chromosomal genetic disorders associated with ventriculomegaly is high, therefore invasive genetic testing, including microarray, is recommended. Screening for prenatal infections, in particular cytomegalovirus and toxoplasmosis, should also be carried out at diagnosis. The prognosis is determined by the severity of ventriculomegaly and/or by the presence of co-existing abnormalities. Fetal ventriculoamniotic shunting in progressive isolated severe ventriculomegaly is an experimental procedure. After delivery, ventricular-peritoneal shunting or ventriculostomy are the two available options to treat hydrocephalus in specific conditions with similar long-term outcomes. A multidisciplinary fetal neurology team, including perinatologists, geneticists, pediatric neurologists, neuroradiologists and neurosurgeons, can provide parents with the most thorough prenatal counseling. This review outlines the latest evidence on diagnosis and management of pregnancies complicated by fetal cerebral ventriculomegaly.


Assuntos
Hidrocefalia , Malformações do Sistema Nervoso , Gravidez , Criança , Feminino , Humanos , Estudos Prospectivos , Hidrocefalia/complicações , Ultrassonografia Pré-Natal/métodos , Malformações do Sistema Nervoso/complicações , Pais , Ventrículos Cerebrais/diagnóstico por imagem , Ventrículos Cerebrais/anormalidades , Diagnóstico Pré-Natal/métodos
9.
Prenat Diagn ; 42(12): 1484-1487, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36221156

RESUMO

FETAL PHENOTYPE: A couple of Ashkenazi Jewish descent was referred for an early anatomy scan at 14 + 2 weeks of gestation following a previous pregnancy termination due to posterior encephalocele and enlarged kidneys. The index pregnancy was also positive for several fetal abnormalities, including enlarged kidneys with cystic dysplasia and abnormal cerebellar morphology highly suggestive of Joubert syndrome. GENETIC DIAGNOSTIC TEST PERFORMED, RESULT, AND INTERPRETATION: Trio exome sequencing revealed compound heterozygosity for variants in the TMEM67 gene: a known pathogenic maternally inherited variant found in trans with a paternal intronic variant of unknown significance. RNA analysis revealed that the intronic variant creates a cryptic acceptor splice site in intron 12, leading to the insertion of 22 bp and causing a frameshift with a premature stop codon. This analysis enabled the reclassification of the intronic variant to likely pathogenic. IMPLICATIONS AND NOVELTY: This information empowered the couple to make informed reproductive choices and opt for preimplantation genetic testing (PGT) for future pregnancies.


Assuntos
Disseminação de Informação , Sítios de Splice de RNA , Éxons , Mutação , Íntrons
10.
Prenat Diagn ; 42(4): 484-494, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34984691

RESUMO

OBJECTIVES: To characterize a suggestive prenatal imaging pattern of Aicardi syndrome using ultrasound and MR imaging. METHODS: Based on a retrospective international series of Aicardi syndrome cases from tertiary centers encountered over a 20-year period (2000-2020), we investigated the frequencies of the imaging features in order to characterize an imaging pattern highly suggestive of the diagnosis. RESULTS: Among 20 cases included, arachnoid cysts associated with a distortion of the interhemispheric fissure were constantly encountered associated with complete or partial agenesis of the corpus callosum (19/20, 95%). This triad in the presence of other CNS disorganization, such as polymicrogyria (16/17, 94%), heterotopias (15/17, 88%), ventriculomegaly (14/20, 70%), cerebral asymmetry [14/20, 70%]) and less frequently extra-CNS anomaly (ocular anomalies [7/11, 64%], costal/vertebral segmentation defect [4/20, 20%]) represent a highly suggestive pattern of Aicardi syndrome in a female patient. CONCLUSION: Despite absence of genetic test to confirm prenatal diagnosis of AS, this combination of CNS and extra-CNS fetal findings allows delineation of a characteristic imaging pattern of AS, especially when facing dysgenesis of the corpus callosum.


Assuntos
Síndrome de Aicardi , Malformações do Sistema Nervoso , Agenesia do Corpo Caloso/diagnóstico por imagem , Síndrome de Aicardi/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Malformações do Sistema Nervoso/diagnóstico por imagem , Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodos
11.
Prenat Diagn ; 41(7): 877-883, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33440022

RESUMO

OBJECTIVE: To study the clinical significance of brain germinal matrix (GM) changes in cytomegalovirus (CMV) infected fetuses. METHOD: This is a retrospective analysis. Group A; isolated GM finding, with or without lenticulostriatal vasculopathy (LSV). Group B; non-isolated lesion. Amniocentesis, urinalysis, postnatal US and developmental assessment, were obtained. RESULTS: Group A and B included 18 and four fetuses, respectively. In group A, mean fetal age at diagnosis was 34.3 weeks (31-38 weeks). In 15/18 (83.3%), the lesion was bilateral and LSV was present in 8/18 (44.4%). Small cysts appeared inside the lesion in 5/18 (27.7%). MRI was normal in 8/18 (44.4%). Subtle or inconclusive findings were reported in the remaining fetuses. Brain ultrasound was normal in 10/18 (55.5%) of newborns. In the remaining, caudothalamic cyst with or without LSV, or isolated LSV were found. All newborns are developing normally at a mean follow-up age of 33.3 months (+/- 19.6 moths). In group B, all four patients requested for termination of pregnancy. CONCLUSION: Fetal CMV infection may cause focal GM changes, frequently accompanied by LSV, late in pregnancy. These changes may be isolated, or as part of a more generalized brain damage. When isolated, favorable prognosis is expected.


Assuntos
Encéfalo/anormalidades , Infecções por Citomegalovirus/complicações , Citomegalovirus/patogenicidade , Feto/diagnóstico por imagem , Adulto , Encéfalo/diagnóstico por imagem , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/diagnóstico por imagem , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodos , Ultrassonografia Pré-Natal/estatística & dados numéricos
12.
Prenat Diagn ; 40(8): 931-941, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32277778

RESUMO

OBJECTIVE: The purpose of this study was to establish prognostic factors in fetuses diagnosed with periventricular pseudocysts (PVPCs) without known congenital infection, between 28 and 37 weeks of gestation. METHODS: This retrospective study included cases of fetal PVPC from 2008 to 2018. PVPCs were classified according to location, number, extension, morphology, and size. Additional findings, MRI and genetic studies were recorded. Pregnancy outcome, postnatal, or postmortem results were obtained. Images from patients with normal (Group 1) and abnormal postnatal development (Group 2) were compared for analysis of factors predictive of outcome. RESULTS: One-hundred and fifteen pseudocysts were observed in 59 patients. In 34 fetuses (57%), the PVPC was an isolated finding. Thirty-nine patients delivered live newborns, 27% opted for termination of pregnancy, and 4 patients were lost to follow-up. Eighty-four percent of the liveborns had normal development. When assessing for the influence of pseudocyst characteristics, a wide CSP, or large head circumference, neither of these affected the outcome. The presence of additional anomalies was the only positive predictor for abnormal development regradless of specific PVPC characteristics (P = .002). CONCLUSIONS: In fetuses with PVPCs, the presence of additional anomalies was the only predictor for adverse postnatal outcome. No association between cystic characteristics and adverse outcome was observed.


Assuntos
Cistos/diagnóstico , Cistos/epidemiologia , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/epidemiologia , Adulto , Cistos/congênito , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/epidemiologia , Humanos , Recém-Nascido , Israel/epidemiologia , Imageamento por Ressonância Magnética , Masculino , Gravidez , Resultado da Gravidez/epidemiologia , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/estatística & dados numéricos , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Ultrassonografia Pré-Natal , Adulto Jovem
13.
Prenat Diagn ; 40(6): 674-680, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32037567

RESUMO

OBJECTIVE: The purpose of this study is to describe the imaging findings in a group of fetuses with suspected agenesis of the septum pellucidum (ASP) and to evaluate their clinical outcome. METHODS: This is a retrospective multicenter study on a cohort of fetuses diagnosed with suspected ASP, between 2008 and 2017. The records of each patient, including ultrasound (US) and magnetic resonance studies, were reviewed and compared with the postnatal findings. RESULTS: Forty-seven patients were included in the study at a mean gestational age of 26.6 weeks. In 17 patients, the ASP was considered isolated. Fourteen patients delivered live-born, and all 14 are developing normally. Three were lost to follow-up. Twenty-four patients had associated malformations involving the central nervous system (CNS); 13 were delivered (normal development [5], abnormal [6] and no follow-up [2]). Nine patients opted for termination, and two pregnancies were lost to follow-up. Six patients had non-CNS associated findings, two were delivered with normal neurological development and four had a termination. CONCLUSIONS: Isolated ASP is usually associated with a favorable outcome; but in the presence of associated malformations, there is at least a 50% risk of abnormal development. Current imaging techniques can provide an accurate prognosis in cases when ASP appears isolated.


Assuntos
Malformações do Sistema Nervoso/diagnóstico por imagem , Displasia Septo-Óptica/diagnóstico por imagem , Septo Pelúcido/anormalidades , Aborto Induzido , Adolescente , Adulto , Agenesia do Corpo Caloso/diagnóstico por imagem , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Estudos de Coortes , Deficiências do Desenvolvimento/diagnóstico por imagem , Feminino , Idade Gestacional , Holoprosencefalia/diagnóstico por imagem , Humanos , Hidrocefalia/diagnóstico por imagem , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Malformações do Sistema Nervoso/fisiopatologia , Transtornos do Neurodesenvolvimento , Polimicrogiria/diagnóstico por imagem , Gravidez , Prognóstico , Estudos Retrospectivos , Esquizencefalia/diagnóstico por imagem , Displasia Septo-Óptica/fisiopatologia , Septo Pelúcido/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto Jovem
14.
Ultraschall Med ; 40(4): 476-480, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29879744

RESUMO

OBJECTIVE: To construct prenatal age-specific reference intervals for sonographic measurements of the optic nerve sheath diameter (ONSD) during gestation in normal fetuses. MATERIALS AND METHODS: Prospective cross-sectional study of fetuses assessed in antenatal ultrasound units between 2010 and 2014. The examination was based on a technique for the sonographic assessment of ONSD previously published by our group. The mean values and SDs of the ONSD were modeled as a function of the gestational week by curve estimation analysis based on the highest adjusted R2 coefficient. Repeatability tests were performed to assess intraobserver variability and interobserver agreement. RESULTS: During the study period 364 healthy fetuses were enrolled. The mean values for the ONSD varied from 0.6 mm at 15-16 weeks to 2.8 mm at 37-38 weeks. The ONSD grows in a linear fashion throughout gestation, with a quadratic equation providing an optimal fit to the data (adjusted R2 = 0.957). CONCLUSION: Sonographic age-specific references for the fetal ONSD are presented. This data may assist in the decision-making process in fetuses with a suspected increase in intracranial pressure, or anomalies affecting the development of optic stalks, such as optic hypoplasia and septo-optic dysplasia.


Assuntos
Nomogramas , Nervo Óptico , Ultrassonografia , Estudos Transversais , Feminino , Feto/diagnóstico por imagem , Humanos , Hipertensão Intracraniana/diagnóstico por imagem , Nervo Óptico/diagnóstico por imagem , Gravidez , Estudos Prospectivos , Valores de Referência
16.
Fetal Diagn Ther ; 43(1): 53-60, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28624828

RESUMO

OBJECTIVE: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA). METHODS: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed. RESULTS: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals. A specific Doppler feature was a collecting vein draining the echogenic parenchyma. Fetal brain MRI depicted normal anatomy on half-Fourier acquisition single-shot turbo spin-echo and diffusion-weighted imaging. The rest of the evaluation was normal. CONCLUSIONS: In cases with a persistent, parenchymal echogenic lesion without clastic or structural changes, DVA should be considered. Demonstration of a collecting vein draining the lesion and normal brain anatomy on MRI confirm the diagnosis.


Assuntos
Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Veias Cerebrais/diagnóstico por imagem , Imageamento por Ressonância Magnética , Tecido Parenquimatoso/diagnóstico por imagem , Ultrassonografia Doppler Transcraniana , Ultrassonografia Pré-Natal/métodos , Aborto Induzido , Adulto , Fatores Etários , Autopsia , Malformações Vasculares do Sistema Nervoso Central/patologia , Veias Cerebrais/anormalidades , Veias Cerebrais/patologia , Desenvolvimento Infantil , Feminino , Idade Gestacional , Humanos , Lactente , Valor Preditivo dos Testes , Gravidez , Prognóstico , Reprodutibilidade dos Testes
17.
Fetal Diagn Ther ; 40(4): 277-284, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27049321

RESUMO

INTRODUCTION: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic shadow on the underlying brain. The objective of this study was to evaluate the yield of the 'brain shadowing sign' (BSS) as a novel sonographic marker for craniosynostosis. SUBJECTS AND METHODS: Patients with an antenatal diagnosis of fetal craniosynostosis (cases) and healthy controls paired for gestational age were enrolled in this retrospective case-control study. Two-dimensional scans were assessed by three examiners for the presence of the BSS and additional fetal findings. RESULTS: The BSS was clearly depicted in all 24 cases on the first analysis and in 22 cases on the second analysis. No fetus from the control group (n = 48) presented the BSS in any of the analyses. Fifteen cases had isolated craniosynostosis and 9 were syndromic (Apert, Saethre-Chotzen and craniofrontonasal syndromes), which were diagnosed significantly earlier due to additional malformations. DISCUSSION: The BSS is a novel sonographic marker of craniosynostosis which can be used to increase the diagnostic rate of this rare condition and does not require the use of high-definition three-dimensional transducers to be depicted.


Assuntos
Encéfalo/diagnóstico por imagem , Craniossinostoses/diagnóstico por imagem , Ultrassonografia Pré-Natal , Estudos de Casos e Controles , Desenvolvimento Fetal , Idade Gestacional , Humanos , Estudos Retrospectivos , Crânio/diagnóstico por imagem , Crânio/embriologia
18.
Gynecol Obstet Invest ; 80(3): 145-7, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26087702

RESUMO

AIM: To review all past reports of Candida glabrata chorioamnionitis in the literature while noting their correlation with in vitro fertilization (IVF). METHODS: We checked MEDLINE, PubMed and Google scholar (January 1970 to December 2014) for articles using the search terms 'Candida', 'Torulopsis', 'glabrata', 'chorioamnionitis', 'congenital', 'perinatal' and 'infection'. Case reports were included if they described a verified intrauterine infection with C. glabrata. The authors reviewed the articles and abstracted the data. 20 cases were compared, including a case reported from our institution shortly described in this article. RESULTS: 13 of 20 cases (65%) involved pregnancies achieved by IVF; 3 patients underwent amniocentesis during their pregnancy. Of the 7 cases with no history of IVF, 2 involved a history of cerclage and 2 a history of intrauterine device use. Only 6 infants survived, delivered prematurely by cesarean section. CONCLUSIONS: Review of literature demonstrated a high prevalence of IVF-assisted pregnancies among the few C. glabrata chorioamnionitis cases previously described, typically occurring during the second trimester. Additional cases were notable for additional instrumentation/invasive procedure. The prognosis was mostly grim, entailing a high incidence of stillbirth or rapid neonatal death.


Assuntos
Candida glabrata/isolamento & purificação , Candidíase/microbiologia , Corioamnionite/microbiologia , Fertilização in vitro/efeitos adversos , Complicações Infecciosas na Gravidez/microbiologia , Candidíase/epidemiologia , Corioamnionite/epidemiologia , Feminino , Humanos , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Prevalência
19.
Arch Gynecol Obstet ; 287(5): 845-9, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23208462

RESUMO

PURPOSE: To compare two-dimensional ultrasonography (2DUS) and magnetic resonance imaging (MRI) for assessing brain and spine parameters in fetuses with spina bifida. METHODS: A cross-sectional study was conducted on 15 fetuses with spina bifida (one with encephalocele, four with rachischisis and 10 with myelomeningocele). The size of the atrium of the lateral ventricle, percentage shortening of the cerebellum, degree of compromising of the first vertebra and total number of vertebras affected by herniation were assessed. The MRI examination was performed not more than 7 days after the 2DUS. To compare and correlate the parameters from the two techniques, the paired Student's t test and intraclass correlation coefficient (ICC) were used. To assess the correlations of atrium measurements from 2DUS and MRI with other parameters, Pearson's correlation coefficient (r) was used. RESULTS: No significant difference was observed in any of the means of the parameters assessed using the two techniques (p > 0.05). Both 2DUS and MRI seemed to present satisfactory reliability in measurements on the size of the atrium of the lateral ventricle and the first vertebra affected (ICC = 0.88 and 0.75, respectively). Measurements on the atrium of the lateral ventricle from 2DUS correlated better with the other parameters than did measurements from MRI. CONCLUSIONS: In fetuses with spina bifida, 2DUS and MRI present similar results, but measurements on the atrium of the lateral ventricle from 2DUS correlated better with the other parameters.


Assuntos
Encéfalo/patologia , Imageamento por Ressonância Magnética , Disrafismo Espinal/embriologia , Coluna Vertebral/patologia , Ultrassonografia Pré-Natal/métodos , Adulto , Encéfalo/embriologia , Feminino , Idade Gestacional , Humanos , Meningomielocele/diagnóstico , Meningomielocele/diagnóstico por imagem , Gravidez , Disrafismo Espinal/diagnóstico , Disrafismo Espinal/patologia , Coluna Vertebral/embriologia
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